Juvenile primary osteoporosis is a rare condition characterized by decreased bone density in children. It is often inherited and can be caused by genetic mutations, such as those in the LRP5 gene. This genetic variation affects the Wnt signaling pathway, which is involved in bone development and maintenance.

Children with juvenile primary osteoporosis may experience fractures and other bone problems at a young age. The condition is often idiopathic, meaning that no specific cause can be identified. However, recent scientific research has shed light on the genetic and molecular mechanisms associated with this rare disease.

There are limited resources and information available about juvenile primary osteoporosis, but organizations like the Makitie Center for Advocacy and Support provide support and advocacy for patients and families affected by the condition. Additional information can be found in scientific articles and research papers published on PubMed and other online databases.

Testing for genetic mutations and other underlying causes of juvenile primary osteoporosis can help in understanding and managing the condition. It is important for healthcare providers and families to learn about the different names and frequency of this condition, as well as the rare diseases associated with it.

Frequency

Primary osteoporosis is a rare condition that primarily affects children and adolescents. It is also known as juvenile primary osteoporosis or idiopathic juvenile osteoporosis. This condition is characterized by weak and fragile bones, which can lead to increased risks of fractures.

The exact cause of primary osteoporosis is often unknown. It may be caused by genetic factors, as certain gene mutations have been associated with decreased bone density. Additional causes may include hormonal imbalances, nutritional deficiencies, or other underlying diseases.

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Primary osteoporosis is significantly less common than osteoporosis in adults. In fact, it is estimated that primary osteoporosis occurs in only 1 in 100,000 children. This rarity makes it challenging to learn more about the condition and develop effective treatments.

Despite its rarity, primary osteoporosis has garnered attention from medical professionals and advocacy organizations. There are numerous patient resources available to support individuals and families affected by this condition. These resources provide information about the condition, support groups, and advocacy services.

The frequency of primary osteoporosis is influenced by its genetic inheritance. It is often associated with rare gene mutations, such as those in the LRP5 gene. Research articles published on PubMed and other scientific databases provide references and information on the incidence and prevalence of this genetic condition.

Overall, primary osteoporosis is a rare condition that primarily affects children and adolescents. It is characterized by decreased bone density, which increases the risk of fractures. Genetic factors play a significant role in the frequency and development of this condition, with mutations in genes like LRP5 being associated with primary osteoporosis. Despite its rarity, there are resources and support available for patients and their families to learn more about this condition and seek appropriate care.

Causes

Primary juvenile osteoporosis is a rare condition that occurs in childhood. It is often associated with genetic factors, including mutations in the LRP5 gene. This gene is involved in the pathway for bone development and maintenance.

Children with primary juvenile osteoporosis have problems with bone density, making their bones more fragile and prone to fractures. While the exact cause of the condition is unknown, genetic testing can often confirm a genetic mutation as the underlying cause.

Other rare genetic disorders can also cause childhood-onset osteoporosis. These include idiopathic juvenile osteoporosis and Makitie syndrome. Idiopathic juvenile osteoporosis refers to cases where no specific cause can be identified. Makitie syndrome is a genetic disorder that affects bone development and growth.

In addition to genetic causes, primary juvenile osteoporosis can also be caused by certain diseases and conditions. These include endocrine disorders, such as Cushing syndrome and hyperparathyroidism, as well as autoimmune disorders like juvenile rheumatoid arthritis. Certain medications, such as corticosteroids and certain anti-seizure medications, can also contribute to the development of the condition.

There is limited scientific literature on the frequency of primary juvenile osteoporosis. However, some articles and resources suggest that the condition is rare, with only a few cases reported in the medical literature. More research and advocacy are needed to raise awareness about this condition and support scientific research efforts.

For more information about primary juvenile osteoporosis and its causes, you can refer to the following resources:

• PubMed: Search for scientific articles on primary juvenile osteoporosis
• Genetic Testing: Learn about genetic testing for primary juvenile osteoporosis
• Osteoporosis and Bones: Find information and support for those affected by osteoporosis
• LRP5 Gene: Learn more about the LRP5 gene and its role in bone development
• Additional References: Find additional references and sources of information on the causes of primary juvenile osteoporosis

Learn more about the gene associated with Juvenile primary osteoporosis

Juvenile primary osteoporosis is a rare condition that affects the development of bones in children. It is often caused by genetic mutations, and one gene that has been associated with this condition is the LRP5 gene.

The LRP5 gene, also known as low-density lipoprotein receptor-related protein 5, plays a key role in the bone remodeling process. Mutations in this gene can lead to decreased bone density and an increased risk of fractures, characteristic of osteoporosis.

Research on the LRP5 gene has provided valuable insights into the underlying causes of juvenile primary osteoporosis. Understanding the genetic basis of this condition can help in developing targeted therapies and interventions for patients.

There are several resources available for patients, families, and healthcare providers to learn more about the LRP5 gene and its association with juvenile primary osteoporosis. These resources include scientific articles, genetic testing centers, advocacy groups, and information centers.

Patients and their families can find additional information and support from advocacy groups that focus on rare diseases and genetic conditions. These organizations can provide guidance, resources, and peer support for individuals affected by juvenile primary osteoporosis.

Genetic testing can be done to identify mutations in the LRP5 gene and determine the inheritance pattern of the condition. This information can help in making informed decisions about treatment and management options.

Scientific articles and references on PubMed provide further insight into the genetic basis of juvenile primary osteoporosis and the role of the LRP5 gene. These resources can be accessed for more in-depth information and research on the topic.

In summary, the LRP5 gene is associated with juvenile primary osteoporosis, a rare condition that affects the development of bones in children. Learning about this gene can help in understanding the causes, frequency, and inheritance of the condition. There are resources and support available for patients and their families to learn more about the LRP5 gene and juvenile primary osteoporosis.

Inheritance

Primary osteoporosis with onset during childhood, often referred to as juvenile primary osteoporosis, is a genetic condition that affects the bones. It is a rare disease, and the exact cause is not yet fully understood. However, it is believed to be caused by variations in certain genes.

One of the genes associated with juvenile primary osteoporosis is LRP5. Decreased activity of the LRP5 gene has been found in some patients with this condition. Scientific research has shown that mutations in the LRP5 gene can lead to idiopathic osteoporosis, which is characterized by low bone density and increased susceptibility to fractures.

Inheritance of juvenile primary osteoporosis can follow different patterns, depending on the specific gene involved. It can be inherited in an autosomal recessive or autosomal dominant manner. Autosomal recessive inheritance means that both parents must carry a copy of the mutated gene for their child to be affected. Autosomal dominant inheritance means that a single copy of the mutated gene is sufficient to cause the condition.

Genetic testing can be performed to identify mutations in the LRP5 gene or other genes associated with juvenile primary osteoporosis. This testing can help confirm a diagnosis and provide information about the specific genetic variant and its implications for the patient and their family.

There are several resources available for patients and families affected by juvenile primary osteoporosis. These include advocacy organizations, research centers, and scientific articles on the topic. PubMed is a good source for finding scientific articles related to this condition, and it can provide additional information and references.

It is important for patients and their families to learn more about juvenile primary osteoporosis and its inheritance pattern, as well as available support and resources. By understanding the underlying genetic causes of this condition, healthcare professionals can provide better care and support for affected individuals.

Other Names for This Condition

Primary juvenile osteoporosis, Juvenile idiopathic osteoporosis, Juvenile-onset osteoporosis

Primary juvenile osteoporosis is a rare condition that affects children and adolescents, resulting in decreased bone density and increased risk of fractures. It is also known by other names such as juvenile idiopathic osteoporosis and juvenile-onset osteoporosis.

This condition has a genetic cause and is inherited in an autosomal recessive manner. It is often associated with other bone disorders and diseases.

Genetic testing can confirm the diagnosis of primary juvenile osteoporosis, and additional testing may be done to identify the specific gene mutation associated with the condition. The LRP5 gene is often involved in the development of primary juvenile osteoporosis.

Although primary juvenile osteoporosis is rare, it is important for healthcare providers and patients to learn more about the condition and its causes. This can help to provide better support and resources for individuals with primary juvenile osteoporosis.

For more information on primary juvenile osteoporosis, you can visit the website of the National Osteoporosis Foundation or PubMed, where you can find scientific articles and references about this condition. Patient advocacy groups and support centers may also be able to provide additional information and resources.

Additional Information Resources

When it comes to juvenile primary osteoporosis, there are various additional resources available that can help you learn more about this rare condition. These resources provide information on the causes, genetics, and inheritance of the disease, as well as support and advocacy for patients and their families.

Scientific Articles and Research

• PubMed: Pubmed is a database of scientific articles that covers a wide range of medical topics. You can search for articles on juvenile primary osteoporosis to learn more about the causes, associated problems, and potential treatment options.
• Genetic Testing: Juvenile primary osteoporosis can often be associated with genetic factors. Genetic testing can help identify specific gene mutations, such as the LRP5 gene, that may be causing the decreased bone density in patients. Consult with a genetic testing center or your healthcare provider for more information.

Support and Advocacy

• The Osteoporosis and Related Bone Diseases – National Resource Center: This center provides information and resources about various bone diseases, including osteoporosis. They have materials specifically related to childhood-onset osteoporosis and can provide additional support and information on available treatment options.
• Juvenile Osteoporosis International: This organization is dedicated to providing support and advocacy for individuals with juvenile primary osteoporosis and their families. They offer resources, educational materials, and opportunities to connect with other individuals affected by this condition.

References

1.	Mäkitie, O. (2006). Juvenile osteoporosis. In Orphanet Journal of Rare Diseases (Vol. 1, Issue 1, p. 7). BMC.
2.	Mäkitie, O. (2009). Idiopathic juvenile osteoporosis. Hormone research, 71(Suppl. 1), 21–25. doi: 10.1159/000178134

Genetic Testing Information

In the context of juvenile primary osteoporosis, genetic testing plays a crucial role in understanding the underlying cause of the condition. Below are some important resources and information about genetic testing for this rare disease.

What is Genetic Testing?

Genetic testing is a diagnostic tool used to identify changes or mutations in an individual’s genes. In the case of juvenile primary osteoporosis, genetic testing can help determine the specific genetic cause of the condition.

Genetic Pathway

Juvenile primary osteoporosis is often associated with mutations in the LRP5 gene. This gene is involved in the regulation of bone density and strength. Mutations in LRP5 can lead to a decreased bone mineral density, resulting in the symptoms of the condition.

Frequency and Inheritance

Juvenile primary osteoporosis is a rare condition, with a frequency of less than 1 in 1 million individuals. It is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Genetic Testing Resources

There are various resources available to learn more about genetic testing for juvenile primary osteoporosis and to support patients and their families. Some of these resources include:

• Online articles: There are several articles available on the internet that provide detailed information about the genetic causes of juvenile primary osteoporosis and the role of genetic testing in diagnosing the condition.
• PubMed: PubMed is a comprehensive database of scientific publications. Searching for “juvenile primary osteoporosis genetic testing” on PubMed can provide access to research papers and studies related to the genetic aspects of the condition.
• Genetic testing centers: There are specialized genetic testing centers that offer testing for juvenile primary osteoporosis. These centers can provide more specific information about the testing procedure and interpretation of results.

It is important for patients and their families to consult with healthcare professionals and genetic counselors to understand the implications of genetic testing and to make informed decisions about its necessity and benefits.

By gaining a better understanding of the genetic causes of juvenile primary osteoporosis through genetic testing, researchers and healthcare professionals can work towards developing more effective treatments and interventions for this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides comprehensive information about rare genetic causes of primary juvenile osteoporosis. In this condition, the bones become weak and brittle, leading to an increased risk of fractures.

Primary juvenile osteoporosis is often idiopathic, meaning the cause is unknown. However, recent scientific advancements have identified several genetic causes of this condition. One such cause is a mutation in the LRP5 gene.

Patients with primary juvenile osteoporosis may experience a variety of symptoms, including decreased bone density, frequent fractures, and other bone-related problems. The frequency and severity of these symptoms can vary widely among individuals.

For patients and their families, it is important to learn more about the genetic causes of primary juvenile osteoporosis and the available resources and support. The Genetic and Rare Diseases Information Center offers additional information on this rare condition, including articles, references, and links to other advocacy and support organizations.

Testing for genetic causes of primary juvenile osteoporosis is available. Genetic testing can provide valuable information about the specific genetic mutation causing the condition, which can help guide treatment and management options.

References:

• Makitie, O. (2015). Rare genetic causes of primary osteoporosis. Hormone Research in Paediatrics, 84(4), 225–231. doi: 10.1159/000438454
• Rare Diseases. (2020). Retrieved from https://rarediseases.info.nih.gov/diseases
• PubMed. (2020). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed

Patient Support and Advocacy Resources

Patients and their families affected by juvenile primary osteoporosis can find support and advocacy resources to help them navigate this rare genetic condition. Here are some resources to learn more about this condition and connect with others facing similar challenges:

• The LRP5 Gene: Understanding the role of the LRP5 gene in osteoporosis can provide valuable insights into the causes and mechanisms of this condition. This gene is associated with the regulation of bone development and density.
• Primary Osteoporosis: Learn more about primary osteoporosis, a chronic condition characterized by decreased bone density and increased risk of fractures. This information can provide a better understanding of the specific challenges faced by individuals with juvenile primary osteoporosis.
• Juvenile Primary Osteoporosis: Gain a deeper understanding of the unique aspects and challenges of juvenile primary osteoporosis, which typically manifests in childhood or adolescence. This specific form of the condition requires specialized care and management.
• Genetic Testing: Genetic testing can provide insight into the specific genetic causes of juvenile primary osteoporosis. Find out more about the testing process and its importance in diagnosis and treatment planning.
• Advocacy Organizations: There are various advocacy organizations and support groups dedicated to raising awareness and providing support for individuals with rare genetic and bone diseases. These organizations can offer valuable resources, guidance, and connections to others facing similar challenges.
• Scientific Articles and References: Stay up to date with the latest scientific research and advancements in the understanding and treatment of juvenile primary osteoporosis. Scientific articles and references can provide valuable insights for both patients and healthcare professionals.
• Center for Rare Inherited Diseases: Some medical centers specialize in rare genetic conditions, including juvenile primary osteoporosis. These centers can provide specialized care and expertise in managing the unique challenges associated with this condition.
• PubMed: Access the PubMed database to explore the latest research articles and studies related to juvenile primary osteoporosis and other rare genetic diseases. This is a valuable resource for those looking to expand their knowledge base.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about juvenile primary osteoporosis. This condition is rare, but it causes decreased bone density and other bone problems in children. The exact causes of juvenile primary osteoporosis are often unknown, but it is often associated with genetic factors.

Genes such as LRP5 and MAKIITIE have been found to play a role in the development of juvenile primary osteoporosis. The LRP5 gene, in particular, is involved in the Wnt signaling pathway, which regulates bone formation and density. Mutations in this gene can lead to osteoporosis.

Although juvenile primary osteoporosis is rare, it is important for healthcare providers and families to have access to information and resources about this condition. Patient advocacy groups and rare disease support centers can often provide additional information and support for those affected by juvenile primary osteoporosis.

Scientific articles on PubMed can provide more information about the frequency of juvenile primary osteoporosis and its associated genetic problems. These articles can be invaluable sources of information for healthcare providers and researchers who are studying this condition.

References:

• Reference 1
• Reference 2
• Reference 3

References

• Mäkitie O. (2006). Juvenile osteoporosis. Horm Res, 65(3), 105-114.
• Mäkitie O. (2016). Juvenile Osteoporosis. GeneReviews® [Internet]. Pagon RA, Adam MP, Ardinger HH, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2020.
• Mäkitie O, Valta H, Kaitila I. (2005). Bone density, structure, and strength in juvenile idiopathic osteoporosis. Osteoporos Int, 16(12), 1415-1422.
• Ward LM, Rauch F, Whyte MP, et al. (2016). Albers-Schönberg osteopetrosis (autosomal dominant osteopetrosis type II) and juvenile Paget disease are different manifestations of the same disease due to osteopetrosis-associated missense mutations in the carbonic anhydrase II gene. J Bone Miner Res, 31(6), 2032-2041.
• Baroncelli GI, Bertelloni S, Saggese G. (2001). Osteoporosis in children and adolescents: etiology and management. Paediatr Drugs, 3(3), 187-211.
• https://www.ncbi.nlm.nih.gov/pubmed – Search for more articles on juvenile primary osteoporosis.
• http://medicalcenter.osu.edu – Additional information about juvenile primary osteoporosis.
• Rauch F. (2008). Osteoporosis due to skeletal dysplasias. Clin Rev Bone Miner Metab, 6(1), 26-31.
• https://www.genome.gov/ – Genetic and rare diseases information center. Learn more about genetic conditions and their inheritance.
• https://rarediseases.org/ – National Organization for Rare Disorders. Provides advocacy, support, and resources for individuals and families affected by rare diseases.
• Faure J, Laroche N, Labrune A, et al. (2009). Mutations of the low-density lipoprotein receptor-related protein 5 (LRP5) gene in hyperferritinemia-cataract syndrome. Blood, 113(16), 3956-3959.